Bioinformatics & AI

Week of 29 September 2026

7 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

►NanoTS — F1 above 0.980 on direct RNA and above 0.966 on cDNA for nanopore SNP calling (at least five supporting reads).
►KCNH2 — 79% concordance between MAVE and automated patch clamp across 495 variants; 92 of 111 unresolved or conflicting ClinVar variants could reach a likely pathogenic classification.
►ADAMTS13 — 385 variants compiled in an interactive database; N-terminal variants are associated with earlier onset and lower residual activity.
►AlphaGenome Atlas — regulatory effects predicted for every possible single nucleotide variant, condensed into a unified score (AVI).
►SVPG — long-read structural variant calling on a pangenome reference, with the graph augmented nearly tenfold faster across 20 samples.

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NanoTS: a deep learning tool for accurate SNP calling in nanopore long-read transcriptome data.

SNP calling from nanopore transcriptome sequencing data

Long-readNew toolLong-read sequencing

Nat Methods 2026· SepRead

Likelihood ratio calibration aligns MAVE and automated patch-clamp functional evidence for KCNH2 variants in long QT syndrome.

Long QT syndrome — functional evidence for the interpretation of KCNH2 variants

Variant interpretation

Heart Rhythm 2026· SepRead

An Interactive Database of ADAMTS13 Variants Yields Novel Insight into Thrombotic Thrombocytopenic Purpura.

Congenital thrombotic thrombocytopenic purpura — ADAMTS13 variant database

Variant interpretationNew tool

Blood Adv 2026· SepRead

Pathogenicity prediction

AlphaGenome Atlas: in silico mutagenesis of the entire human genome improves prioritization and interpretation of non-coding variants

Non-coding variants — prioritization and interpretation

Pathogenicity predictionNew toolPathogenicity prediction

medRxiv 2026· SepRead

Variant interpretation

Splice-site variants in neurology: from molecular mechanisms to clinical interpretation - a focused review.

Splice-altering variants in neurogenetics — mechanisms and clinical interpretation

Variant interpretation

Neurogenetics 2026· SepRead

SVPG: a pangenome-based structural variant detection approach and rapid augmentation of pangenome graphs with new samples.

Structural variant detection from long-read data using a pangenome reference

Long-readSV callerLong-read sequencing

Nat Methods 2026· SepRead

Variant interpretation

Interpreting human genetic variation at atomic resolution.

Interpreting genetic variants at atomic resolution — computational structural genomics

Variant interpretation

Nat Genet 2026· SepRead

References and sources

SNP calling from nanopore transcriptome sequencing data. Nat Methods 2026. PMID 42773294. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42773294/
KCNH2 — Long QT syndrome — functional evidence for the interpretation of KCNH2 variants. Heart Rhythm 2026. PMID 42790797. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42790797/
ADAMTS13 — Congenital thrombotic thrombocytopenic purpura — ADAMTS13 variant database. Blood Adv 2026. PMID 42789934. Score 5/10. https://pubmed.ncbi.nlm.nih.gov/42789934/
Non-coding variants — prioritization and interpretation. medRxiv 2026. doi:10.64898/2026.09.16.26363192. Score 4/10. https://www.medrxiv.org/content/10.64898/2026.09.16.26363192v1
Splice-altering variants in neurogenetics — mechanisms and clinical interpretation. Neurogenetics 2026. PMID 42799960. Score 4/10. https://pubmed.ncbi.nlm.nih.gov/42799960/
Structural variant detection from long-read data using a pangenome reference. Nat Methods 2026. PMID 42768106. Score 4/10. https://pubmed.ncbi.nlm.nih.gov/42768106/
Interpreting genetic variants at atomic resolution — computational structural genomics. Nat Genet 2026. PMID 42768124. Score 4/10. https://pubmed.ncbi.nlm.nih.gov/42768124/

22 September 2026